A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.
Metacarpophalangeal pattern profile (MCPP) was determined on 16 Prader‐Willi patients. Chromosome analysis of 14 patients showed an interstitial deletion of the long arm of chromosome 15 in seven subjects and normal chromosome results for the remaining individuals. Two separate and distinguishable hand profiles for each group based on the chromosome findings were identified. Correlation studies confirmed the homogeneity of the chromosome deletion group relative to the Prader‐Willi individuals with normal chromosomes. Discriminant analysis of Prader‐Willi versus normal individuals produces a function of three MCPP variables plus age which may provide a useful tool for diagnosis.
We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.
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